Translation of abstract (English)

The localization of ranBP17 at the breakpoint t(5;14)(q34;q11) of two patients with ALL was determined by genomic sequencing of ranBP17-positive PAC clones and by a genomic database search. RanBP17 is disrupted between exon 24a and exon 25 at the first patient, wether the breakpoint at the second patient occurs 8030bp beyond the 3`-terminus of ranBP17. RanBP17 rests completly at chromosome 5q34 due to this second breakeage. The enhancer elements TCRa/d, located at chromosome 14q11, are translocated to ranBP17 in both cases. In the process of genomic database searching one could determined the exon1 of the homeobox gene hox11l2 in a distance of 9242bp at the ranBP17 3`-terminus. This gene is translocated to TCR-Dd3 on chromosome 14q11 at both patients. However, since the enhancers TCRa/d are translocated to ranBP17 one could assume that ranBP17 is involved in ALL progression. The pattern of ranBP17 expression showed four transcripts in human testis ans pancreas with a size of 2.0, 4.2, 7.5 and 10.0kb. High evolutionary conservation was demonstrated by genomic southern blot and genomic database search down to chicken and the nematode C. elegans. The start codon in a good Kozak consensus was found after a 5`-RACE-PCR. The cloning of different transcripts was achieved by cDNA-screening experiments. The largest transcript owns an ORF of 1088AA and a cDNA of 4301bp. Structure of intron-exon boundaries was revelead by database searching. The exons 9, 14a-e, 24a-b and 28 could be determined as modules of alternative splicing, that results in a shortening of the protein. Computer based protein analysis showed homology to the ran-binding protein RanBP16 and classified RanBP17 to the protein familiy of importinb nuclear transport receptors.